ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer)

dbSNP: rs764792655
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000800278 SCV000939983 pathogenic not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu4*) in the TYMP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TYMP are known to be pathogenic (PMID: 9924029, 15781193). This variant is present in population databases (rs764792655, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TYMP-related conditions. ClinVar contains an entry for this variant (Variation ID: 646061). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002501066 SCV002809732 pathogenic Mitochondrial DNA depletion syndrome 1 2021-07-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002501066 SCV003816055 likely pathogenic Mitochondrial DNA depletion syndrome 1 2022-03-31 criteria provided, single submitter clinical testing

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